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American journal of human genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 736 - 743
Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Contractile Proteins - genetics | Humans | Middle Aged | Glycoproteins - metabolism | Male | Aneurysm, Dissecting - physiopathology | Aged, 80 and over | Fibroblasts | Adult | Female | Contractile Proteins - metabolism | Child | Glycoproteins - genetics | Haploinsufficiency - genetics | Intercellular Signaling Peptides and Proteins | Codon, Nonsense | Sequence Analysis, DNA | Aortic Aneurysm, Thoracic - physiopathology | Exome - genetics | Pedigree | Adolescent | Aged | Amino Acid Substitution | Genetic research | Aortic aneurysms | Genetic aspects | Research | Gene mutations | Aneurysms | Genetics | Mutation | Pathogenesis | Dissection | Cells | Index Medicus | Report
Journal Article
Human mutation, ISSN 1059-7794, 11/2007, Volume 28, Issue 11, pp. 1055 - 1064
epilepsy | mental retardation | lissencephaly | TUBA1A | TUBA3 | neuronal migration | Neuronal migration | Lissencephaly | Mental retardation | Epilepsy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | DNA - genetics | Brain - embryology | Phenotype | In Situ Hybridization | Humans | RNA, Messenger - genetics | Brain Diseases - genetics | Polymerase Chain Reaction | Tubulin - genetics | Brain - abnormalities | Mutation, Missense | Index Medicus
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Human mutation, ISSN 1059-7794, 12/2020, Volume 41, Issue 12, pp. 2167 - 2178
midline anomaly | consanguinity | fetus | next‐generation sequencing | heterotaxy | congenital heart defects | next-generation sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Congenital heart disease | Genetic disorders | Coronary heart disease | Medical genetics | Cytogenetics | Heredity | Consanguinity | Genetic counseling | Hedgehog protein | Fetuses | Index Medicus
Journal Article
Medical hypotheses, ISSN 0306-9877, 12/2019, Volume 133, pp. 109403 - 109403
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Journal of human genetics, ISSN 1434-5161, 05/2018, Volume 63, Issue 5, pp. 691 - 698
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International journal of molecular sciences, ISSN 1661-6596, 03/2017, Volume 18, Issue 3, pp. 618 - 618
Autism | Child psychiatric and psychological assessment | Hierarchical diagnostic strategy | Clinical genetics | Genetic disorders | Neuropediatric evaluation | Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Autism Spectrum Disorder - epidemiology | Humans | Genetic Diseases, Inborn - epidemiology | Autism Spectrum Disorder - etiology | Autism Spectrum Disorder - diagnosis | Index Medicus | Life Sciences | Human health and pathology | hierarchical diagnostic strategy | genetic disorders | autism | clinical genetics | neuropediatric evaluation | child psychiatric and psychological assessment
Journal Article
Human mutation, ISSN 1059-7794, 03/2012, Volume 33, Issue 3, pp. 504 - 510
DFNB31 | molecular analysis | Usher syndrome | GPR98 | functional analysis | Molecular analysis | Functional analysis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Usher Syndromes - genetics | Membrane Proteins - genetics | Extracellular Matrix Proteins - genetics | Humans | Polymerase Chain Reaction | Receptors, G-Protein-Coupled - genetics | Mutation | Index Medicus | Life Sciences | Human health and pathology | Genetics | Sensory Organs
Journal Article
Journal of bone and mineral research, ISSN 0884-0431, 05/2020, Volume 35, Issue 5, pp. 913 - 919
PHP1A | PSEUDOHYPOPARATHYROIDISM | POH | GNAS | MUTATIONS | PPHP | TRANSMISSION RATIO DISTORTION | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Phenotypes | Population studies | Heredity | Guanine nucleotide-binding protein | Guanine | Sex ratio | Progeny | Embryogenesis | Genetic counseling | Osteodystrophy | Parathyroid hormone | Fertility | Pseudohypoparathyroidism | Alleles | Mutation | Genotypes | Index Medicus | Life Sciences | Genetics | Human genetics
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Journal of medical genetics, ISSN 0022-2593, 02/2016, Volume 53, Issue 2, pp. 98 - 110
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Reproducibility of Results | Tooth Abnormalities - genetics | Dentin Dysplasia - genetics | Humans | Coloboma - genetics | Non-Fibrillar Collagens - genetics | Chromosomes, Human, Pair 11 - genetics | Hearing Loss, Sensorineural - genetics | Amelogenesis Imperfecta - genetics | Autoantigens - genetics | Mutation | France | High-Throughput Nucleotide Sequencing - methods | Chromosome Disorders - genetics | Cohort Studies | Usage | Genetic disorders | Nucleotide sequencing | Diagnosis | Risk factors | DNA sequencing | Databases | Disease | Laboratories | Genomes | Patients | Deoxyribonucleic acid--DNA | Index Medicus | Life Sciences | counselling | Diagnostics tests | Molecular genetics | Genetics | Genome-wide | 1506 | Methods | Genetic screening
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